Prenatal Diagnosis of a KIDINS220 De Novo Heterozygous Variant in a Fetus With a Complex CNS Anomaly

Hadas Miremberg*, Roee Birnbaum, Dorin Trigubov, Adi Botvinik, Yuval Yaron, Adi Mory, Gustavo Malinger, Karina Krajden Haratz

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Following termination of pregnancy due to multiple brain malformations, a non-consanguineous couple of Jewish descent sought genetic counseling. Brain malformations identified on neurosonogram included corpus callosum dysgenesis, abnormal brain stem morphology, abnormal cortical sulcation and hypertelorism. Trio exome sequencing revealed a heterozygous de novo likely pathogenic variant in KIDINS220 gene. Heterozygous variants in KIDINS220 have been linked to spastic paraplegia, intellectual disability, nystagmus, and obesity syndrome (SINO). Reports on prenatal findings are limited and primarily consist of cases of ventriculomegaly. We describe a more severe clinical presentation in a case with a heterozygous variant.

Original languageEnglish
Pages (from-to)1518-1521
Number of pages4
JournalPrenatal Diagnosis
Volume44
Issue number12
DOIs
StatePublished - Nov 2024

Keywords

  • CNS malformation
  • KIDINS220
  • heterozygous
  • neurosonogram
  • prenatal ultrasound

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